Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency
Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood.Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk.Objective: Earrings to identify the I172N mutation, to determine its frequency in the studied population and its possibl